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Mutation detection

Subtypes of Familial Hemophagocytic Lymphohistiocytosis in Japan Based on Genetic and Functional Analyses of Cytotoxic T Lymphocytes

Kozo Nagai, Ken Yamamoto, Hiroshi Fujiwara, Jun An, Toshiki Ochi, Koichiro Suemori, Takahiro Yasumi, Hisamichi Tauchi, Katsuyoshi Koh, Maho Sato, Akira Morimoto, Toshio Heike, Eiichi Ishii, Masaki Yasukawa

published 30 Nov 2010

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The Effect of Gentamicin-Induced Readthrough on a Novel Premature Termination Codon of CD18 Leukocyte Adhesion Deficiency Patients

Amos J. Simon, Atar Lev, Baruch Wolach, Ronit Gavrieli, Ninette Amariglio, Ester Rosenthal, Ephraim Gazit, Eran Eyal, Gideon Rechavi, Raz Somech

published 16 Nov 2010

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FGFR3, HRAS, KRAS, NRAS and PIK3CA Mutations in Bladder Cancer and Their Potential as Biomarkers for Surveillance and Therapy

Lucie C. Kompier, Irene Lurkin, Madelon N. M. van der Aa, Bas W. G. van Rhijn, Theo H. van der Kwast, Ellen C. Zwarthoff

published 03 Nov 2010

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Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

Amélie Bonnefond, Emmanuelle Durand, Olivier Sand, Franck De Graeve, Sophie Gallina, Kanetee Busiah, Stéphane Lobbens, Albane Simon, Christine Bellanné-Chantelot, Louis Létourneau, Raphael Scharfmann, Jérôme Delplanque, Robert Sladek, Michel Polak, Martine Vaxillaire, Philippe Froguel

published 26 Oct 2010

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Impact of the Mitochondrial Genetic Background in Complex III Deficiency

Mari Carmen Gil Borlado, David Moreno Lastres, Maritza Gonzalez Hoyuela, Maria Moran, Alberto Blazquez, Rosa Pello, Lorena Marin Buera, Toni Gabaldon, Juan Jose Garcia Peñas, Miguel A. Martín, Joaquin Arenas, Cristina Ugalde

published 17 Sep 2010

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Mitochondrial DNA Variant Discovery and Evaluation in Human Cardiomyopathies through Next-Generation Sequencing

Michael V. Zaragoza, Joseph Fass, Marta Diegoli, Dawei Lin, Eloisa Arbustini

published 20 Aug 2010

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JAK2 Exon 14 Deletion in Patients with Chronic Myeloproliferative Neoplasms

Wanlong Ma, Hagop Kantarjian, Xi Zhang, Xiuqiang Wang, Zhong Zhang, Chen-Hsiung Yeh, Susan O'Brien, Francis Giles, Jean Marie Bruey, Maher Albitar

published 13 Aug 2010

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Evidence for Sub-Haplogroup H5 of Mitochondrial DNA as a Risk Factor for Late Onset Alzheimer's Disease

Aurelia Santoro, Valentina Balbi, Elisa Balducci, Chiara Pirazzini, Francesca Rosini, Francesca Tavano, Alessandro Achilli, Paola Siviero, Nadia Minicuci, Elena Bellavista, Michele Mishto, Stefano Salvioli, Francesca Marchegiani, Maurizio Cardelli, Fabiola Olivieri, Benedetta Nacmias, Andrea Maria Chiamenti, Luisa Benussi, Roberta Ghidoni, Giuseppina Rose, Carlo Gabelli, Giuliano Binetti, Sandro Sorbi, Gaetano Crepaldi, Giuseppe Passarino, Antonio Torroni, Claudio Franceschi

published 06 Aug 2010

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Genotyping with a 198 Mutation Arrayed Primer Extension Array for Hereditary Hearing Loss: Assessment of Its Diagnostic Value for Medical Practice

Juan Rodriguez-Paris, Lynn Pique, Tahl Colen, Joseph Roberson, Phyllis Gardner, Iris Schrijver

published 26 Jul 2010

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Molecular Ecology of Pyrethroid Knockdown Resistance in Culex pipiens pallens Mosquitoes

Lin Chen, Daibin Zhong, Donghui Zhang, Linna Shi, Guofa Zhou, Maoqing Gong, Huayun Zhou, Yan Sun, Lei Ma, Ji He, Shanchao Hong, Dan Zhou, Chunrong Xiong, Chen Chen, Ping Zou, Changliang Zhu, Guiyun Yan

published 21 Jul 2010

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Whole-Genome Sequencing Reveals Distinct Mutational Patterns in Closely Related Laboratory and Naturally Propagated Francisella tularensis Strains

Andreas Sjödin, Kerstin Svensson, Marie Lindgren, Mats Forsman, Pär Larsson

published 19 Jul 2010

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Dynamics of HIV-1 Quasispecies during Antiviral Treatment Dissected Using Ultra-Deep Pyrosequencing

Charlotte Hedskog, Mattias Mild, Johanna Jernberg, Ellen Sherwood, Göran Bratt, Thomas Leitner, Joakim Lundeberg, Björn Andersson, Jan Albert

published 07 Jul 2010

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UBIAD1 Mutation Alters a Mitochondrial Prenyltransferase to Cause Schnyder Corneal Dystrophy

Michael L. Nickerson, Brittany N. Kostiha, Wolfgang Brandt, William Fredericks, Ke-Ping Xu, Fu-Shin Yu, Bert Gold, James Chodosh, Marc Goldberg, Da Wen Lu, Masakazu Yamada, Timo M. Tervo, Richard Grutzmacher, Chris Croasdale, Maria Hoeltzenbein, John Sutphin, S. Bruce Malkowicz, Ludger Wessjohann, Howard S. Kruth, Michael Dean, Jayne S. Weiss

published 21 May 2010

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